Description

Bardet-Biedl syndrome 4 [Source:HGNC Symbol;Acc:HGNC:969]

Location
About this transcript

This transcript has 16 exons, is annotated with 31 domains and features, is associated with 214 variations and maps to 35 oligo probes.

Gene
NameTranscript IDbpProteinTranslation IDBiotypeCCDSUniProtRefSeqFlags
BBS4-001ENST000002680572490519aaENSP00000268057
 
Protein coding
CCDS10246Q96RK4 NM_033028
NP_149017
TSL:1GENCODE basicAPPRIS P1
BBS4-201ENST000003952052450347aaENSP00000378631
 
Protein coding
CCDS58377Q96RK4 NM_001252678
NP_001239607
TSL:1GENCODE basic
BBS4-016ENST00000569338843281aaENSP00000456758
 
Protein coding
-H3BSL2 -CDS 5' and 3' incompleteTSL:5
BBS4-011ENST00000566829551141aaENSP00000455958
 
Protein coding
-H3BQV7 -CDS 3' incompleteTSL:4
BBS4-013ENST00000566197541181aaENSP00000457479
 
Protein coding
-H3BU58 -CDS 5' and 3' incompleteTSL:3
BBS4-003ENST00000566400205520aaENSP00000456759
 
Nonsense mediated decay
-H3BRY9 -TSL:1
BBS4-002ENST00000567279187667aaENSP00000456664
 
Nonsense mediated decay
-H3BSE2 -TSL:2
BBS4-005ENST00000562084186477aaENSP00000454718
 
Nonsense mediated decay
-H3BN76 -TSL:1
BBS4-008ENST00000561914777103aaENSP00000457795
 
Nonsense mediated decay
-H3BUU1 -TSL:5
BBS4-017ENST00000565160681142aaENSP00000455412
 
Nonsense mediated decay
-H3BPP7 -TSL:3
BBS4-009ENST0000056944057933aaENSP00000457958
 
Nonsense mediated decay
-H3BV56 -TSL:4
BBS4-019ENST0000056693856320aaENSP00000456463
 
Nonsense mediated decay
-H3BRY9 -TSL:4
BBS4-010ENST0000056360055750aaENSP00000457753
 
Nonsense mediated decay
-H3BUQ7 -TSL:4
BBS4-012ENST00000564239527No protein-
 
Processed transcript
---TSL:5
BBS4-007ENST00000569001349No protein-
 
Processed transcript
---TSL:3
BBS4-004ENST000005622191004No protein-
 
Retained intron
---TSL:1
BBS4-014ENST00000568535781No protein-
 
Retained intron
---TSL:2
BBS4-015ENST00000569151272No protein-
 
Retained intron
---TSL:3

Protein domains for ENSP00000268057.4

Transcript-based displays